A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.
Identifieur interne : 000017 ( PubMed/Checkpoint ); précédent : 000016; suivant : 000018A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.
Auteurs : Bernadette R. Gochuico [États-Unis] ; Shira G. Ziegler [États-Unis] ; Nicholas S. Ten [États-Unis] ; Nicholas J. Balanda [États-Unis] ; Christopher E. Mason [États-Unis] ; Paul Zumbo [États-Unis] ; Colleen A. Evans [États-Unis] ; Carter Van Waes [États-Unis] ; William A. Gahl [États-Unis] ; May C V. Malicdan [États-Unis]Source :
- Translational research : the journal of laboratory and clinical medicine [ 1878-1810 ] ; 2020.
Abstract
Precision medicine has generated diagnoses for many patients with challenging undiagnosed disorders. Some individuals remain without a diagnosis despite comprehensive testing, and this impedes their treatment. This report addresses the role of personalized medicine in identifying effective therapy for an undiagnosed disease. A 22-year-old woman presented with chronic severe recurrent trismus, facial pain, progressive multicentric inflammatory and fibrotic masses, and high C-reactive protein. Sites of disease included the pterygomaxillary region, masseter muscles, mandible, lung, pericardium, intrabdominal cavity, and retroperitoneum. A diagnosis was not established after an extensive assessment, including multiple biopsies. The patient was subsequently evaluated under the Undiagnosed Diseases Program at the National Institutes of Health. Large scale genotyping, proteomic studies, and in vitro and gene expression analyses of fibroblasts obtained from a major disease locus were performed. Germline genetic testing did not identify strong candidate genes; proteomic studies of the patient's serum and bronchoalveolar lavage fluid and gene expression analyses of her cells were consistent with dysregulation of the tumor necrosis factor-alpha pathway. The patient's cultured fibroblasts were incubated with selected drugs, and cell proliferation was inhibited by hydroxychloroquine. Treatment of the patient with hydroxychloroquine conferred prolonged beneficial clinical effects, including stabilization of trismus and reduction of corticosteroid dose, C-reactive protein, and size of masses. This case represents an example of precision medicine applied to discover effective treatments for individuals with enigmatic undiagnosed disorders.
DOI: 10.1016/j.trsl.2019.08.008
PubMed: 31520587
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Mason</name><affiliation wicri:level="2"><nlm:affiliation>Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York; The World Quant Initiative for Quantitative Prediction, Weill Cornell Medicine, New York, New York; The Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York; The World Quant Initiative for Quantitative Prediction, Weill Cornell Medicine, New York, New York; The Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York</wicri:cityArea></affiliation></author><author><name sortKey="Zumbo, Paul" sort="Zumbo, Paul" uniqKey="Zumbo P" first="Paul" last="Zumbo">Paul Zumbo</name><affiliation wicri:level="2"><nlm:affiliation>Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Physiology and Biophysics, Weill Cornell Medicine, New York</wicri:cityArea></affiliation></author><author><name sortKey="Evans, Colleen A" sort="Evans, Colleen A" uniqKey="Evans C" first="Colleen A" last="Evans">Colleen A. Evans</name><affiliation wicri:level="2"><nlm:affiliation>NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Van Waes, Carter" sort="Van Waes, Carter" uniqKey="Van Waes C" first="Carter" last="Van Waes">Carter Van Waes</name><affiliation wicri:level="2"><nlm:affiliation>Head and Neck Surgery Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of HealthBethesda, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Head and Neck Surgery Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of HealthBethesda</wicri:cityArea></affiliation></author><author><name sortKey="Gahl, William A" sort="Gahl, William A" uniqKey="Gahl W" first="William A" last="Gahl">William A. Gahl</name><affiliation wicri:level="2"><nlm:affiliation>Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Malicdan, May C V" sort="Malicdan, May C V" uniqKey="Malicdan M" first="May C V" last="Malicdan">May C V. Malicdan</name><affiliation wicri:level="2"><nlm:affiliation>Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author></analytic><series><title level="j">Translational research : the journal of laboratory and clinical medicine</title><idno type="eISSN">1878-1810</idno><imprint><date when="2020" type="published">2020</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Precision medicine has generated diagnoses for many patients with challenging undiagnosed disorders. Some individuals remain without a diagnosis despite comprehensive testing, and this impedes their treatment. This report addresses the role of personalized medicine in identifying effective therapy for an undiagnosed disease. A 22-year-old woman presented with chronic severe recurrent trismus, facial pain, progressive multicentric inflammatory and fibrotic masses, and high C-reactive protein. Sites of disease included the pterygomaxillary region, masseter muscles, mandible, lung, pericardium, intrabdominal cavity, and retroperitoneum. A diagnosis was not established after an extensive assessment, including multiple biopsies. The patient was subsequently evaluated under the Undiagnosed Diseases Program at the National Institutes of Health. Large scale genotyping, proteomic studies, and in vitro and gene expression analyses of fibroblasts obtained from a major disease locus were performed. Germline genetic testing did not identify strong candidate genes; proteomic studies of the patient's serum and bronchoalveolar lavage fluid and gene expression analyses of her cells were consistent with dysregulation of the tumor necrosis factor-alpha pathway. The patient's cultured fibroblasts were incubated with selected drugs, and cell proliferation was inhibited by hydroxychloroquine. Treatment of the patient with hydroxychloroquine conferred prolonged beneficial clinical effects, including stabilization of trismus and reduction of corticosteroid dose, C-reactive protein, and size of masses. This case represents an example of precision medicine applied to discover effective treatments for individuals with enigmatic undiagnosed disorders.</div></front></TEI><pubmed><MedlineCitation Status="In-Data-Review" Owner="NLM"><PMID Version="1">31520587</PMID><DateRevised><Year>2020</Year><Month>03</Month><Day>12</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1878-1810</ISSN><JournalIssue CitedMedium="Internet"><Volume>215</Volume><PubDate><Year>2020</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Translational research : the journal of laboratory and clinical medicine</Title><ISOAbbreviation>Transl Res</ISOAbbreviation></Journal><ArticleTitle>A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.</ArticleTitle><Pagination><MedlinePgn>31-40</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S1931-5244(19)30171-9</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.trsl.2019.08.008</ELocationID><Abstract><AbstractText>Precision medicine has generated diagnoses for many patients with challenging undiagnosed disorders. Some individuals remain without a diagnosis despite comprehensive testing, and this impedes their treatment. This report addresses the role of personalized medicine in identifying effective therapy for an undiagnosed disease. A 22-year-old woman presented with chronic severe recurrent trismus, facial pain, progressive multicentric inflammatory and fibrotic masses, and high C-reactive protein. Sites of disease included the pterygomaxillary region, masseter muscles, mandible, lung, pericardium, intrabdominal cavity, and retroperitoneum. A diagnosis was not established after an extensive assessment, including multiple biopsies. The patient was subsequently evaluated under the Undiagnosed Diseases Program at the National Institutes of Health. Large scale genotyping, proteomic studies, and in vitro and gene expression analyses of fibroblasts obtained from a major disease locus were performed. Germline genetic testing did not identify strong candidate genes; proteomic studies of the patient's serum and bronchoalveolar lavage fluid and gene expression analyses of her cells were consistent with dysregulation of the tumor necrosis factor-alpha pathway. The patient's cultured fibroblasts were incubated with selected drugs, and cell proliferation was inhibited by hydroxychloroquine. Treatment of the patient with hydroxychloroquine conferred prolonged beneficial clinical effects, including stabilization of trismus and reduction of corticosteroid dose, C-reactive protein, and size of masses. This case represents an example of precision medicine applied to discover effective treatments for individuals with enigmatic undiagnosed disorders.</AbstractText><CopyrightInformation>Published by Elsevier Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gochuico</LastName><ForeName>Bernadette R</ForeName><Initials>BR</Initials><AffiliationInfo><Affiliation>Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. Electronic address: gochuicb@mail.nih.gov.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ziegler</LastName><ForeName>Shira G</ForeName><Initials>SG</Initials><AffiliationInfo><Affiliation>Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Department of Genetics and Pediatrics, Johns Hopkins University School of Medicine, Bloomberg Children's Center, Baltimore, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ten</LastName><ForeName>Nicholas S</ForeName><Initials>NS</Initials><AffiliationInfo><Affiliation>NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Balanda</LastName><ForeName>Nicholas J</ForeName><Initials>NJ</Initials><AffiliationInfo><Affiliation>NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mason</LastName><ForeName>Christopher E</ForeName><Initials>CE</Initials><AffiliationInfo><Affiliation>Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York; The World Quant Initiative for Quantitative Prediction, Weill Cornell Medicine, New York, New York; The Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zumbo</LastName><ForeName>Paul</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Evans</LastName><ForeName>Colleen A</ForeName><Initials>CA</Initials><AffiliationInfo><Affiliation>NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Van Waes</LastName><ForeName>Carter</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Head and Neck Surgery Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of HealthBethesda, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gahl</LastName><ForeName>William A</ForeName><Initials>WA</Initials><AffiliationInfo><Affiliation>Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Malicdan</LastName><ForeName>May C V</ForeName><Initials>MCV</Initials><AffiliationInfo><Affiliation>Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 DC000075</GrantID><Acronym>DC</Acronym><Agency>NIDCD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 MH117406</GrantID><Acronym>MH</Acronym><Agency>NIMH NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>Z01 DC000075</GrantID><Acronym>ImNIH</Acronym><Agency>Intramural NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>Z99 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